LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.410 GeneticVariation disease BEFREE Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191 2009
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.410 Biomarker disease CTD_human Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. 15726408 2005
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.410 Biomarker disease HPO